Autosomal dominant craniosynostosis of the sutura metopica.
Trigonocephaly due to craniosynostosis of the sutura metopica was found in two sibs with normal intelligence. Both were microcephalic. The father had a sloping forehead and possibly partial metopic craniosynostosis. The paternal grandfather had a bony ridge at the upper half of the metopic suture without significant head deformity. A paternal sister was possibly also affected. None of the affected persons showed significant other anomalies. Craniosynostosis of the metopic suture may be an autosomal dominantly inherited disorder, not associated with functional brain or other abnormalities.
Hennekam
R C
RC
Clinical Genetics Center, Utrecht, The Netherlands.
Van den Boogaard
M J
MJ
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003393:Cranial Sutures / Q000002:abnormalities*; D003398:Craniosynostoses / Q000235:genetics* / Q000601:surgery; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree